With interest we read the article by Bianco et al. about the contribution of the mutation load and mtDNA copy number on the penetrance of primary Leber’s hereditary optic neuropathy (LHON) mutations in 30 affected patients. We have the following comments and concerns. A main clinical feature of LHON is reduced visual acuity. However, according to Table 1, only 11 of 30 patients had reduced visu...

Leber Hereditary Optic Neuropathy (LHON) is a mitochondrial disease caused by mutations in DNA affecting the respiratory complex I and leading to death of retinal ganglion cells (RGCs) [1]. It characterized sudden onset usually severe bilateral loss central vision, predominantly young men [2]. The risk vision 50% among 10% women who carry LHON primary [3]. We report an atypic case 11 years old ...

BACKGROUND Leber hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy that leads to central loss of vision, predominantly in young males. Most LHON cases have one of three primary point mutations in mitochondrial DNA (mtDNA). The annual incidence and prevalence of LHON in Japan are not known. Thus, we estimated the annual incidence of molecularly confirmed LHON in Japan...

Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder with bilateral loss of central vision primarily due to mitochondrial DNA (mtDNA) mutations in subunits of complex I in the respiratory chain (primary LHON mutations), while other mtDNA mutations can also be causative. Since the first description, it is known that LHON is not restricted to the eyes but is...

OBJECTIVES Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease in which acute or subacute bilateral visual loss occurs preferentially in young men. Over 95% of LHON cases are associated with one of three mitochondrial DNA (mtDNA) point mutations, but only 50% of men and 10% of women who harbour a pathogenetic mtDNA mutation develop optic neuropathy. This incomplete pene...

AIMS To evaluate the mitochondrial respiratory enzyme activities in blood cells of Leber's hereditary optic neuropathy (LHON) with 11778 point mutation of mitochondrial DNA. METHODS Assays for the activities of NADH-cytochrome c reductase (complex I+complex III), succinate-cytochrome c reductase (complex II+complex III), and cytochrome c oxidase (complex IV) on blood cell mitochondria of seve...

Purpose: Autosomal dominant optic atrophy (ADOA) and Leber's hereditary optic neuropathy (LHON) are the commonest forms of hereditary optic atrophy The aim of this study was to report the results of molecular screening of the OPA1, OPA3 gene, and primary LHON-causing mtDNA mutations in a cohort of patients with suspected hereditary optic neuropathy. Methods: Patients and unaffected individuals ...

Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disease due to mitochondrial DNA (mtDNA) point mutations in complex I subunit genes, whose incomplete penetrance has been attributed to both genetic and environmental factors. Indeed, the mtDNA background defined as haplogroup J is known to increase the penetrance of the 11778/ND4 and 14484/ND6 mutations. Recently it ...

leber hereditary optic neuropathy (lhon) is a maternally inherited form of retinal ganglion cell degeneration leading to optic atrophy in young adults. it is caused by three primary point mutations including g11778a, g3460a, and t14484c in the mitochondrial genome. these three mutations account for the majority of lhon cases and affect genes that encode for different subunits of mitochondrial c...

PURPOSE Leber hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral vision loss. More than 95% of LHON cases are associated with one of the three main mtDNA mutations: G11778A, T14484C, and G3460A. The other 5% of cases are due to other rare mutations related to the disease. The aim of this study was to identify the prevalence and spectrum of LHON mtDNA mutati...